Structural brain defects

Matthew T Whitehead; Stanley T Fricke; Andrea L Gropman

doi:10.1016/j.clp.2015.02.007

Structural brain defects

Clin Perinatol. 2015 Jun;42(2):337-61, ix. doi: 10.1016/j.clp.2015.02.007. Epub 2015 Apr 4.

Authors

Matthew T Whitehead¹, Stanley T Fricke², Andrea L Gropman³

Affiliations

¹ Department of Radiology, Children's National Medical Center, 111 Michigan Avenue Northwest, Washington, DC 20010, USA. Electronic address: MWhitehe@childrensnational.org.
² Department of Radiology, Children's National Medical Center, 111 Michigan Avenue Northwest, Washington, DC 20010, USA.
³ Department of Neurology, Children's National Medical Center, 111 Michigan Avenue Northwest, Washington, DC 20010, USA.

PMID: 26042908
DOI: 10.1016/j.clp.2015.02.007

Abstract

Up to 14% of patients with congenital metabolic disease may show structural brain abnormalities from perturbation of cell proliferation, migration, and/or organization. Most inborn errors of metabolism have a postnatal onset. Abnormalities from genetic disease processes have a prenatal onset. Energy impairment, substrate insufficiency, cell membrane receptor and cell signaling abnormalities, and toxic byproduct accumulation are associations between genetic disorders and structural brain anomalies. Collective imaging patterns of brain abnormalities can provide clues to the underlying etiology. We review selected metabolic diseases associated with brain malformations and highlight characteristic clinical and imaging manifestations that help narrow the differential diagnosis.

Keywords: Brain; Genetic; MRI; Malformations; Metabolic; Spectroscopy; Structural.

Publication types

Review

MeSH terms

Brain Diseases* / congenital
Brain Diseases* / diagnosis
Brain Diseases* / genetics
Diagnostic Imaging*
Genetic Testing / methods*
Humans
Infant, Newborn